CFC1

cripto, FRL-1, cryptic family 1
OMIM: 605194, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green CFC1 in Congenital Heart Defect


Level 2: Cardiovascular disorders
Version 0.418

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • Expert list
Phenotypes
  • Heterotaxy, visceral, 2, MIM# 605376

Red CFC1 in Ciliopathies


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.54

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Heterotaxy, visceral, 2, autosomal 605376

Green CFC1 in Heterotaxy


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.32

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Heterotaxy, visceral, 2, autosomal 605376

Green CFC1 in Mendeliome


Version 1.1891

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Heterotaxy, visceral, 2, autosomal 605376

Green CFC1 in Additional findings_Paediatric


Level 2: Screening
Version 0.278

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Congenital heart defects

Green CFC1 in Fetal anomalies


Version 1.255

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Expert list
Phenotypes
  • Heterotaxy, visceral, 2, autosomal 605376

Red CFC1 in BabyScreen+ newborn screening


Level 2: Screening
Version 1.113

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • BabySeq Category A gene
Phenotypes
  • Heterotaxy, visceral, 2, autosomal MIM#605376